Syndactyly, Type V (SDTY5)

Alias:
Syndactyly Type 5
Sdty5
Syndactyly with Metacarpal and Metatarsal Fusion
Postaxial Syndactyly with Metacarpal Synostosis
Sd5
Syndactyly with Associated Metacarpal and Metatarsal Fusion
Syndactyly, Type V, with Metacarpal and Metatarsal Fusion
Syndactyly Type V
Syndactyly 5
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Syndactyly, Type V, also known as syndactyly type 5, is related to brachydactyly, type a4 and brachydactyly, type d. An important gene associated with Syndactyly, Type V is HOXD13 (Homeobox D13), and among its related pathways/superpathways is FGFR3 signaling in chondrocyte proliferation and terminal differentiation. Affiliated tissues include bone and kidney, and related phenotypes are short distal phalanx of finger and ulnar deviation of finger
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
11
128
5

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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